← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-169636565-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=169636565&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 169636565,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004792.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "NM_004792.3",
"protein_id": "NP_004783.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260970.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004792.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "ENST00000260970.8",
"protein_id": "ENSP00000260970.3",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004792.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260970.8"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "ENST00000433207.6",
"protein_id": "ENSP00000408683.2",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433207.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "ENST00000448752.7",
"protein_id": "ENSP00000407083.2",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448752.7"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "ENST00000409714.7",
"protein_id": "ENSP00000386245.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 739,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409714.7"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "ENST00000676756.1",
"protein_id": "ENSP00000503525.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676756.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "ENST00000678499.1",
"protein_id": "ENSP00000503136.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678499.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "ENST00000679107.1",
"protein_id": "ENSP00000502997.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679107.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "ENST00000935437.1",
"protein_id": "ENSP00000605496.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935437.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "ENST00000951877.1",
"protein_id": "ENSP00000621936.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951877.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1304G>A",
"hgvs_p": "p.Arg435Lys",
"transcript": "ENST00000935439.1",
"protein_id": "ENSP00000605498.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 753,
"cds_start": 1304,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935439.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1298G>A",
"hgvs_p": "p.Arg433Lys",
"transcript": "ENST00000678088.1",
"protein_id": "ENSP00000504661.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 751,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678088.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1298G>A",
"hgvs_p": "p.Arg433Lys",
"transcript": "ENST00000935438.1",
"protein_id": "ENSP00000605497.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 751,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935438.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1298G>A",
"hgvs_p": "p.Arg433Lys",
"transcript": "ENST00000951878.1",
"protein_id": "ENSP00000621937.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 751,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951878.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "ENST00000951879.1",
"protein_id": "ENSP00000621938.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 739,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951879.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414Lys",
"transcript": "ENST00000678638.1",
"protein_id": "ENSP00000504607.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 732,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678638.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414Lys",
"transcript": "ENST00000898369.1",
"protein_id": "ENSP00000568428.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 732,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898369.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414Lys",
"transcript": "ENST00000935436.1",
"protein_id": "ENSP00000605495.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 732,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935436.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414Lys",
"transcript": "ENST00000951876.1",
"protein_id": "ENSP00000621935.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 732,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951876.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411Lys",
"transcript": "ENST00000935440.1",
"protein_id": "ENSP00000605499.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 729,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935440.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380Lys",
"transcript": "ENST00000935441.1",
"protein_id": "ENSP00000605500.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 698,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935441.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Lys",
"transcript": "ENST00000676508.1",
"protein_id": "ENSP00000503889.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 679,
"cds_start": 1082,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676508.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "XM_005246966.3",
"protein_id": "XP_005247023.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246966.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "XM_005246967.2",
"protein_id": "XP_005247024.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246967.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "n.*537G>A",
"hgvs_p": null,
"transcript": "ENST00000482772.5",
"protein_id": "ENSP00000503085.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482772.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "n.2303G>A",
"hgvs_p": null,
"transcript": "ENST00000677392.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "n.1662G>A",
"hgvs_p": null,
"transcript": "ENST00000677750.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "n.2623G>A",
"hgvs_p": null,
"transcript": "ENST00000678695.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678695.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "n.*967G>A",
"hgvs_p": null,
"transcript": "ENST00000678721.1",
"protein_id": "ENSP00000504173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678721.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "n.2487G>A",
"hgvs_p": null,
"transcript": "ENST00000679324.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "n.*537G>A",
"hgvs_p": null,
"transcript": "ENST00000482772.5",
"protein_id": "ENSP00000503085.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482772.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"hgvs_c": "n.*967G>A",
"hgvs_p": null,
"transcript": "ENST00000678721.1",
"protein_id": "ENSP00000504173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678721.1"
}
],
"gene_symbol": "PPIG",
"gene_hgnc_id": 14650,
"dbsnp": "rs370131717",
"frequency_reference_population": 0.000061128354,
"hom_count_reference_population": 1,
"allele_count_reference_population": 98,
"gnomad_exomes_af": 0.0000633976,
"gnomad_genomes_af": 0.0000394669,
"gnomad_exomes_ac": 92,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11054244637489319,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.0842,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.925,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004792.3",
"gene_symbol": "PPIG",
"hgnc_id": 14650,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}